Individual #00358951

ID_report Case71927
Reference PubMed: Tiwari 2016
Remarks see paper
Gender F
Consanguinity -
Country Switzerland
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-03-18 12:15:00 +01:00 (CET)
Date last edited N/A


Phenotypes

retinal disease (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000254249 see paper; ... macular dystrophy - Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360188 DNA SEQ-NG - WES - 6 LOVD



Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Parent #1 +/. - pathogenic (recessive) g.94473807C>T g.94008251C>T - - ABCA4_000046 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD ABCA4 - - - - - NM_000350.2:c.5882G>A - r.(?) p.(Gly1961Glu) - - - - - - - - - - - - - -
1 Parent #2 +/. - pathogenic (recessive) g.94526212G>A g.94060656G>A - - ABCA4_000075 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD ABCA4 - - - - - NM_000350.2:c.2041C>T - r.(?) p.(Arg681*) - - - - - - - - - - - - - -
2 Unknown ?/. - VUS g.99013251G>A g.98396788G>A - - CNGA3_000021 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD CNGA3 - - - - - NM_001298.2:c.1618G>A - r.(?) p.(Val540Ile) - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.72967951C>T g.72258248C>T - - RIMS1_000092 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD RIMS1 - - - - - NM_014989.5:c.2894C>T - r.(?) p.(Pro965Leu) - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.85958855C>G g.84199099C>G - - CDHR1_000112 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD CDHR1 - - - - - NM_033100.3:c.416C>G - r.(?) p.(Pro139Arg) - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.21793080T>C g.21324921T>C - - RPGRIP1_000152 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD RPGRIP1 - - - - - NM_020366.3:c.2066T>C - r.(?) p.(Leu689Pro) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.